{
    "disease_id": "DOID:0080597",
    "recommended_name": {
        "id": "DOID:0080597",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080597",
        "name": "Kleefstra syndrome",
        "description": "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone."
    },
    "synonyms": [
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "Kleefstra syndrome 1",
            "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3."
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "9q-syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "KLEFS1",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "Kleefstra syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "chromosome 9q34.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "Kleefstra syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:610253",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610253",
            "name": "Kleefstra syndrome 1",
            "description": "Kleefstra syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060352",
            "label": "Kleefstra syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080598",
            "label": "Kleefstra syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080598",
        "DOID:0060352",
        "DOID:0080597"
    ],
    "unlinked_id_list": []
}